Article

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms

2023-10-27

Abstract excerpt

Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the clinically significant ones remains difficult, such that “Variants of Unknown Significance” outnumber those classified as “Pathogenic” or “Likely Pathogenic.” Numerous i...

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Literature Corpus work: 1960f23f-4e11-5a87-81d9-633578af80d9
DOI: 10.1101/2023.10.24.562294

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